Incidental Mutation 'R8182:Mef2a'
| ID |
634676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2a
|
| Ensembl Gene |
ENSMUSG00000030557 |
| Gene Name |
myocyte enhancer factor 2A |
| Synonyms |
A430079H05Rik |
| MMRRC Submission |
067606-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66880911-67022606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66917875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 112
(E112D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032776]
[ENSMUST00000072460]
[ENSMUST00000076325]
[ENSMUST00000107476]
[ENSMUST00000133074]
[ENSMUST00000135493]
[ENSMUST00000156690]
[ENSMUST00000207715]
[ENSMUST00000208512]
|
| AlphaFold |
Q60929 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032776
AA Change: E112D
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: E112D
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
5.2e-30 |
PFAM |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072460
|
| SMART Domains |
Protein: ENSMUSP00000138645
Gene: ENSMUSG00000030557
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076325
AA Change: E112D
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: E112D
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
5.2e-30 |
PFAM |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107476
|
| SMART Domains |
Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
153 |
3.7e-8 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133074
|
| SMART Domains |
Protein: ENSMUSP00000116144
Gene: ENSMUSG00000030557
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
153 |
8.7e-9 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135493
|
| SMART Domains |
Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
153 |
3.7e-8 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156690
|
| SMART Domains |
Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
152 |
1.3e-8 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208512
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
A |
G |
8: 13,272,774 (GRCm39) |
V1328A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,034 (GRCm39) |
Y363C |
probably damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,549 (GRCm39) |
I59T |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,664,372 (GRCm39) |
F100I |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,171,842 (GRCm39) |
H30R |
probably benign |
Het |
| Eef2k |
G |
A |
7: 120,472,626 (GRCm39) |
R113Q |
probably damaging |
Het |
| Fam221b |
G |
A |
4: 43,660,342 (GRCm39) |
R416C |
probably damaging |
Het |
| Fam98b |
C |
A |
2: 117,080,302 (GRCm39) |
D18E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,175,223 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,526,861 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,998,451 (GRCm39) |
R336G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,778 (GRCm39) |
C341S |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,748,813 (GRCm39) |
S398P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,806,951 (GRCm39) |
D1090G |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,681,293 (GRCm39) |
M706K |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,897,929 (GRCm39) |
F747I |
possibly damaging |
Het |
| Gm8257 |
A |
G |
14: 44,887,623 (GRCm39) |
L254P |
probably benign |
Het |
| Hnf4g |
T |
C |
3: 3,716,679 (GRCm39) |
Y283H |
possibly damaging |
Het |
| Irx6 |
C |
A |
8: 93,403,642 (GRCm39) |
Y122* |
probably null |
Het |
| Jph4 |
C |
T |
14: 55,347,213 (GRCm39) |
G445R |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,554,819 (GRCm39) |
R660S |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,819,964 (GRCm39) |
G1556D |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,485,133 (GRCm39) |
Y531* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,319,673 (GRCm39) |
D1950G |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,788,705 (GRCm39) |
S1371A |
probably benign |
Het |
| Mxra8 |
C |
G |
4: 155,925,589 (GRCm39) |
Y99* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,239,292 (GRCm39) |
T112A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,905,634 (GRCm39) |
E4955K |
unknown |
Het |
| Poc1b |
T |
C |
10: 98,991,005 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
A |
G |
3: 119,534,078 (GRCm39) |
Y264H |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,070 (GRCm39) |
V385A |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,008,102 (GRCm39) |
P403S |
possibly damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Serpinb9f |
A |
G |
13: 33,518,603 (GRCm39) |
I368V |
probably benign |
Het |
| Slc1a1 |
A |
T |
19: 28,878,848 (GRCm39) |
T196S |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,120 (GRCm39) |
S60G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,990 (GRCm39) |
V212E |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,584 (GRCm39) |
I584N |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,530,199 (GRCm39) |
N195K |
possibly damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,982 (GRCm39) |
C58R |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,847,775 (GRCm39) |
|
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,876 (GRCm39) |
T75A |
|
Het |
| Vmn2r77 |
T |
A |
7: 86,460,801 (GRCm39) |
L709H |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,901,850 (GRCm39) |
S569P |
probably damaging |
Het |
| Zfp418 |
A |
T |
7: 7,184,658 (GRCm39) |
N207I |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp808 |
G |
A |
13: 62,319,521 (GRCm39) |
C250Y |
probably damaging |
Het |
|
| Other mutations in Mef2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01923:Mef2a
|
APN |
7 |
66,914,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02112:Mef2a
|
APN |
7 |
66,914,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0597_Mef2a_122
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R4635_Mef2a_439
|
UTSW |
7 |
66,890,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
P0024:Mef2a
|
UTSW |
7 |
66,945,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Mef2a
|
UTSW |
7 |
66,901,472 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0583:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0584:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0589:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0597:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0608:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0704:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R1859:Mef2a
|
UTSW |
7 |
66,915,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2166:Mef2a
|
UTSW |
7 |
66,915,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Mef2a
|
UTSW |
7 |
66,915,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3618:Mef2a
|
UTSW |
7 |
66,918,075 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3619:Mef2a
|
UTSW |
7 |
66,918,075 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4576:Mef2a
|
UTSW |
7 |
66,890,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4577:Mef2a
|
UTSW |
7 |
66,890,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4578:Mef2a
|
UTSW |
7 |
66,890,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4635:Mef2a
|
UTSW |
7 |
66,890,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5805:Mef2a
|
UTSW |
7 |
66,901,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7655:Mef2a
|
UTSW |
7 |
66,945,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7656:Mef2a
|
UTSW |
7 |
66,945,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8526:Mef2a
|
UTSW |
7 |
66,901,473 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8870:Mef2a
|
UTSW |
7 |
66,890,176 (GRCm39) |
missense |
probably benign |
|
|
X0011:Mef2a
|
UTSW |
7 |
66,884,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTGTAAAACCAAAGACGC -3'
(R):5'- CGATTACTTTGAGCACAGTCCAC -3'
Sequencing Primer
(F):5'- GTCCTCAATCTTCTGTACAATG -3'
(R):5'- CACTCTCGGAGGACAGATTCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation